Genetic basis of Parkinson disease

Neurosurg Focus. 2010 Jan;28(1):E7. doi: 10.3171/2009.10.FOCUS09220.

Abstract

Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal dominant or autosomal recessive inheritance. These genes include alpha-synuclein, parkin, PINK1, DJ-1, LRRK2, and ATP13A2. The monogenic variants are important tools in identifying cellular pathways that shed light on the pathogenesis of this disease. Certain common genetic variants are also likely to modulate the risk of PD. International collaborative studies and meta-analyses have identified common variants as genetic susceptibility risk/protective factors for sporadic PD.

MeSH terms

  • Deep Brain Stimulation / methods
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics
  • Genome-Wide Association Study / methods
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Mutation / genetics
  • Mutation, Missense / genetics
  • Oncogene Proteins / genetics
  • Parkinson Disease / genetics*
  • Parkinson Disease / therapy
  • Polymorphism, Genetic
  • Protein Deglycase DJ-1
  • Protein Kinases / genetics
  • Ubiquitin-Protein Ligases / genetics
  • alpha-Synuclein / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • PTEN-induced putative kinase
  • PARK7 protein, human
  • Protein Deglycase DJ-1